Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness 859 / 7739
4
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
5
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
6
 (HPO:0000369) Low-set ears 372 / 7739
7
 (HPO:0001634) Mitral valve prolapse 69 / 7739
8
 (HPO:0000405) Conductive hearing impairment Occasional [Orphanet] 164 / 7739
9
 (HPO:0008513) Bilateral conductive hearing impairment 11 / 7739
10
 (HPO:0008591) Congenital conductive hearing impairment 8 / 7739
11
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
12
 (HPO:0000023) Inguinal hernia 51.3514 % [HPO] 181 / 7739
13
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
14
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
15
 (HPO:0000260) Wide anterior fontanel 55 / 7739
16
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
17
 (HPO:0001334) Communicating hydrocephalus Frequent [Orphanet] 32 / 7739
18
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
19
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
20
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
21
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
22
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
23
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
24
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
25
 (HPO:0006487) Bowing of the long bones Occasional [Orphanet] 95 / 7739
26
 (HPO:0001166) Arachnodactyly 62 / 7739
27
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
28
 (HPO:0001836) Camptodactyly of toe Frequent [Orphanet] 27 / 7739
29
 (HPO:0001763) Pes planus Very frequent [Orphanet] 176 / 7739
30
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
31
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
32
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
33
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
34
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
35
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
36
 (HPO:0001840) Metatarsus adductus 49 / 7739
37
 (HPO:0002857) Genu valgum Occasional [Orphanet] rare [HPO] 144 / 7739
38
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
39
 (HPO:0009023) Abdominal wall muscle weakness 12 / 7739
40
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Occasional [Orphanet] 55 / 7739
41
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
42
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
43
 (HPO:0000347) Micrognathia 426 / 7739
44
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
45
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
46
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
47
 (HPO:0000189) Narrow palate 45 / 7739
48
 (HPO:0000218) High palate 81.0811 % [HPO] 356 / 7739
49
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
50
 (HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
51
 (HPO:0000028) Cryptorchidism 10.8108 % [HPO] 347 / 7739
52
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
53
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
54
 (HPO:0000938) Osteopenia 138 / 7739
55
 (HPO:0001519) Disproportionate tall stature Very frequent [Orphanet] 39 / 7739
56
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
57
 (HPO:0001646) Abnormality of the aortic valve Frequent [Orphanet] 55 / 7739
58
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
59
 (HPO:0000974) Hyperextensible skin Occasional [Orphanet] 59 / 7739
60
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
61
 (HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
62
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
63
 (HPO:0001388) Joint laxity 117 / 7739
64
 (HPO:0001249) Intellectual disability 1089 / 7739
65
 (HPO:0001263) Global developmental delay 853 / 7739
66
 (HPO:0000238) Hydrocephalus 278 / 7739
67
 (HPO:0000586) Shallow orbits 23 / 7739
68
 (HPO:0000689) Dental malocclusion 114 / 7739
69
 (HPO:0000883) Thin ribs 31 / 7739
70
 (HPO:0000895) Lateral clavicle hook 11 / 7739
71
 (HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
72
 (HPO:0001724) Aortic dilatation 24 / 7739
73
 (HPO:0002816) Genu recurvatum 30 / 7739
74
 (HPO:0002870) Obstructive sleep apnea 16 / 7739
75
 (HPO:0003016) Metaphyseal widening 41 / 7739
76
 (HPO:0003083) Dislocated radial head 35 / 7739
77
 (HPO:0003717) Minimal subcutaneous fat 4 / 7739
78
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
79
 (HPO:0005815) Supernumerary ribs 9 / 7739
80
 (HPO:0007099) Arnold-Chiari type I malformation 18 / 7739
81
 (HPO:0008440) C1-C2 vertebral abnormality 1 / 7739
82
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
83
 (HPO:0009473) Joint contracture of the hand 84 / 7739
84
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
85
 (OMIM) High, prominent forehead 2 / 7739
86
 (OMIM) Soft auricles 1 / 7739
87
 (OMIM) Prominent lateral palatine ridge 2 / 7739
88
 (OMIM) Aortic root dilation 1 / 7739
89
 (OMIM) Vertebrobasilar artery tortuosity (rare) 1 / 7739
90
 (OMIM) Internal carotid artery tortuosity (rare) 1 / 7739
91
 (OMIM) Pulmonary artery root dilation (rare) 1 / 7739
92
 (OMIM) Apnea, obstructive 2 / 7739
93
 (OMIM) 13 pairs of ribs 2 / 7739
94
 (OMIM) Abdominal wall weakness 1 / 7739
95
 (HPO:0001371) Flexion contracture 220 / 7739
96
 (HPO:0012385) Camptodactyly 113 / 7739
97
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
98
 (HPO:0010547) Muscle flaccidity 466 / 7739
99
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
100
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
101
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
102
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
103
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
104
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
105
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
106
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
107
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
108
 (HPO:0000377) Abnormality of the pinna 111 / 7739
109
 (HPO:0003745) Sporadic 131 / 7739